Common 894G>T single nucleotide polymorphism in the gene coding for endothelial nitric oxide synthase (eNOS) and risk of congenital heart defects

2008 ◽  
Vol 46 (10) ◽  
Author(s):  
Ingrid M. van Beynum ◽  
Christiaan Mooij ◽  
Livia Kapusta ◽  
Sandra Heil ◽  
Martin den Heijer ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Single Nucleotide Polymorphism ◽  
Endothelial Nitric Oxide Synthase ◽  
Congenital Heart ◽  
Heart Defects ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Gene Coding ◽  
Oxide Synthase ◽  
Endothelial Nitric Oxide

scholarly journals Endothelial Nitric Oxide Synthase T-786C Single Nucleotide Polymorphism

Stroke ◽  
2003 ◽  
Vol 34 (11) ◽  
pp. 2555-2559 ◽  
Author(s):  
Vini G. Khurana ◽  
Youvraj R. Sohni ◽  
Wells I. Mangrum ◽  
Robyn L. McClelland ◽  
Dennis J. O’Kane ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Single Nucleotide Polymorphism ◽  
Nitric Oxide Synthase ◽  
Endothelial Nitric Oxide Synthase ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Oxide Synthase ◽  
Endothelial Nitric Oxide

Influence of endothelial nitric oxide synthase T-786C single nucleotide polymorphism on aneurysm size

2005 ◽  
Vol 102 (1) ◽  
pp. 68-71 ◽  
Author(s):  
Hiroyuki Akagawa ◽  
Hidetoshi Kasuya ◽  
Hideaki Onda ◽  
Taku Yoneyama ◽  
Atsushi Sasahara ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Single Nucleotide Polymorphism ◽  
Nitric Oxide Synthase ◽  
Endothelial Nitric Oxide Synthase ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Content Type ◽  
Oxide Synthase ◽  
Endothelial Nitric Oxide ◽  
Fine Print

Object. Among patients with aneurysms, those with heterozygous (T/C) endothelial nitric oxide synthase (eNOS) T-786C single nucleotide polymorphism (SNP), a mutation reducing endothelial nitric oxide synthesis, are reported to have larger ruptured intracranial aneurysms (IAs) than those with homozygous (C/C or T/T) genotype. The authors tested patients harboring aneurysms for eNOS T-786C SNP in two populations—Japanese and Korean. Methods. The eNOS T-786C SNP was genotyped through direct sequencing in genomic DNA obtained from 336 Japanese and 191 Korean patients with IAs and 214 Japanese and 191 Korean control volunteers. Differences in genotype frequencies among the various aneurysm sizes were evaluated using the Fisher exact test. There was no significant difference in heterozygous (T/C) eNOS T-786C SNP between aneurysms 5 mm or smaller and those from 6 to 9 mm, and between lesions 5 mm or smaller and those 10 mm or larger in 336 Japanese patients harboring aneurysms—220 with ruptured and 116 with unruptured lesions—and in 191 Korean patients with ruptured aneurysms. Conclusion. The eNOS T-786C SNP genotype does not influence the size of aneurysms.

scholarly journals Endothelial Nitric Oxide Synthase Gene Single-Nucleotide Polymorphism Predicts Cerebral Vasospasm after Aneurysmal Subarachnoid Hemorrhage

2008 ◽  
Vol 28 (6) ◽  
pp. 1204-1211 ◽  
Author(s):  
Robert M Starke ◽  
Grace H Kim ◽  
Ricardo J Komotar ◽  
Zachary L Hickman ◽  
Eric M Black ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Subarachnoid Hemorrhage ◽  
Nitric Oxide Synthase ◽  
Cerebral Vasospasm ◽  
Endothelial Nitric Oxide Synthase ◽  
Aneurysmal Subarachnoid Hemorrhage ◽  
Enos Gene ◽  
Single Nucleotide ◽  
Oxide Synthase ◽  
Endothelial Nitric Oxide

Vasospasm is a major cause of morbidity and mortality after aneurysmal subarachnoid hemorrhage (aSAH). Studies have shown a link between single-nucleotide polymorphisms (SNPs) in the endothelial nitric oxide synthase (eNOS) gene and the incidence of coronary spasm and aneurysms. Alterations in the eNOS T-786 SNP may lead to an increased risk of post-aSAH cerebral vasospasm. In this prospective clinical study, 77 aSAH patients provided genetic material and were followed for the occurrence of vasospasm. In multivariate logistic regression analysis, genotype was the only factor predictive of vasospasm. The odds ratio (OR) for symptomatic vasospasm in patients with one T allele was 3.3 (95% confidence interval (CI): 1.1 to 10.0, P=0.034) and 10.9 for TT. Patients with angiographic spasm were 3.6 times more likely to have a T allele (95% CI: 1.3 to 9.6, P=0.013; for TT: OR 12.6). Patients with severe vasospasm requiring endovascular therapy were more likely to have a T allele (OR 3.5, 95% CI: 1.3 to 9.5, P=0.016; for TT: OR 12.0). Patients with the T allele of the eNOS gene are more likely to have severe vasospasm. Presence of this genotype may allow the identification of individuals at high risk for post-aSAH vasospasm and lead to early treatment and improved outcome.

Sign in / Sign up

Export Citation Format

Share Document